Summary: Hermansky-Pudlak syndrome 3, middle region
Hermansky-Pudlak syndrome 3, middle region Provide feedback
This domain is downstream of the N-terminus of these vertebrate proteins. This region carries a number of tyrosine sorting motifs and one of two di-leucine sorting boxes at residues 542-548 well as a peroxisomal matrix targetting motif at residues 614-623 in SwissProt:Q969F9. There is also reference to a human Mendelian disease at 614072 .
Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR;, Nat Genet. 2001;28:376-380.: Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. PUBMED:11455388 EPMC:11455388
External database links
This tab holds annotation information from the InterPro database.
InterPro entry IPR028167
This entry represents the central domain of the Hermansky-Pudlak syndrome 3 protein. This region carries a number of tyrosine sorting motifs and one of two di-leucine sorting boxes at residues as well as a peroxisomal matrix targetting motif. Mutation in the gene that encodes this protein causes Hermansky-Pudlak syndrome 3 (HPS3), a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, a bleeding diathesis due to the absence of platelet dense granules, and lysosomal storage defects [PUBMED:11455388, PUBMED:11590544].
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We make a range of alignments for each Pfam-A family:
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Curation and family details
|Number in seed:||19|
|Number in full:||139|
|Average length of the domain:||338.90 aa|
|Average identity of full alignment:||39 %|
|Average coverage of the sequence by the domain:||35.96 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 80369284 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||2|
|Download:||download the raw HMM for this family|
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